UniProtKB/Swiss-Prot Q8TC05: Variant p.Arg489His

Nuclear protein MDM1
Gene: MDM1
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Variant information Variant position:

489 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Histidine (H) at position 489 (R489H, p.Arg489His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs2306393 [ dbSNP | Ensembl ]

Sequence information Variant position:

489 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

714 The length of the canonical sequence.
Location on the sequence:

EGDRKTGKQAFMGEQEKLDV R EKSKADKMKEGSDSSVSSEK The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         EGDRKT----------------GKQAFMGEQEKLDVREKSKADKMKEGSD-SSVSSEK

Mouse                         RGQ-------------------DKQTCAVELEKPD-TQTPK

Rat                           RGK-------------------DKQVCAGELQKVD-MQTSK

Chicken                       EG-------------------------INEDNRIEGENTCL

Zebrafish                     NG-------------------------MERNERLNSLESES

Baker's yeast                 NGQVSSWDMARRYNEFFELNTYLKKNFRDLMRQLQDLFPSK

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 714	Nuclear protein MDM1
Region	391 – 571	Disordered
Compositional bias	469 – 505	Basic and acidic residues
Alternative sequence	70 – 714	Missing. In isoform 3.
Alternative sequence	223 – 714	Missing. In isoform 2.

Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3); VARIANTS ILE-103; HIS-489 AND LEU-552; Submission
Yu W.; Sarginson J.; Gibbs R.A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 462-714 (ISOFORM 1); VARIANT HIS-489;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.